About Us

Ashley was diagnosed at age two with Hermansky-Pudlak Syndrome (HPS), a rare genetic form of Albinism that affects multiple systems of the body. Just months after diagnosis, Ashley suffered a traumatic brain injury due to a severe GI bleed - an early experience that shaped her resilience and connection to the rare disease community. At a time when information about rare conditions was limited, her mother Donna founded the HPS Network, a New York-based nonprofit to connect patients, families, and researchers around the globe. Today, Ashley proudly works alongside her mother and the HPS Network team as an Administrative Assistant and Advocate, supporting outreach, education, and legislative efforts.

Ashley was also a member of the New York State Workgroup for Rare Diseases within the Department of Health, where she was especially passionate about improving emergency preparedness for individuals living with rare diseases. She brings lived experience and a deep understanding of the unique challenges this community faces, ensuring their needs are represented in critical public health planning.

Despite ongoing medical challenges, Ashley pursued her education with determination,  earning her Bachelor of Science in Early Childhood Education with a concentration in Sociology from Long Island University Post, graduating Cum Laude. She has volunteered for over 15 years as a Teacher’s Assistant and singing teacher at the Oyster Bay Preschool. Ashley is also a passionate singer, having performed in churches, weddings, and choruses, and was honored to join the NYSSMA All-State Women’s Chorus in her senior year of high school. Since the COVID-19 pandemic, she has also embraced jewelry-making as a creative outlet. Through every stage of her life, Ashley has remained committed to advocacy, community building, and using her voice to uplift others in the rare disease, disability, and albinism communities. Her journey continues to be one of resilience, love, and hope for a more inclusive world.

Donna is the Executive Director and Founder of the Hermansky-Pudlak Syndrome (HPS) Network. For more than three decades, she has led rare disease advocacy, driven by the urgent need to find treatment for her daughter’s HPS.

Donna served on the American Thoracic Society’s Public Advisory Roundtable (ATS-PAR), where she received the ATS Public Service Award, a Presidential Commendation, and the Innovations in Health Equality Award for her work in Puerto Rico. Still on the executive board, she now serves as Immediate Past Chair of ATS-PAR. Appell is also a member of the Board of Directors of the National Organization of Albinism and Hypopigmentation (NOAH) and a founding member of the NOAH Research Program.

In 2013, Appell and her daughter were honored by the FDA’s Office of Orphan Product Development as two of 30 Heroes marking the 30th Anniversary of the Orphan Drug Act. Her leadership has since been recognized with NORD’s Rare Impact Award (2019) and the Abbey S. Meyers Leadership Award (2025). Under her direction, the HPS Network earned a place in the Chan Zuckerberg Initiative’s Rare As One Network.

While building HPS, Donna worked 23 years as a cardiothoracic ICU nurse, though the role she values most is working with daughter Ashley to strengthen the rare disease community and press for a cure.

Kristen has lived with four rare diseases since early childhood; Gastroparesis, Thoracic Outlet Syndrome, Charcot Marie Tooth disease, and Postural Orthostatic Tachycardia Syndrome. (1 in 20 people or more with a rare disease may have multiple conditions.) In spite of that Kristen has long been an advocate for people with rare diseases and is helping to lead the effort in NY to create a Rare Disease Advisory Council. Kristen believes we can provide better care for people who live with rare diseases, especially in the areas of early diagnosis and better tertiary care for the symptoms of rare diseases, which can significantly affect a person's quality of life and mental health.    

Bob was born with the rare bleeding disorder Hemophilia A and has been active in the bleeding disorders community since 1991. The Public Policy Director for the New York State Bleeding Disorders Coalition since 2009, Bob served as a member of the Medicaid Matters New York statewide coalition Steering Committee. from 2020 - 2024. In 2021 Bob was recognized by the Every Life Foundation as the State Advocacy Patient Advocate of the year and in 2025 he received a NORD Rare Impact Award. as a Community Champion for his volunteer advocacy work. Bob served on the NYS Rare Disease Work Group, and is active in efforts to create a permanent Rare Disease Advisory Council for New York State. Having seen great strides made in the treatment of bleeding disorders in his lifetime, Bob is dedicated to helping bring that progress to others with rare diseases. He can often be seen wandering the halls of government in Albany with his trusty sidekick.   

Frank is President of the patient advocacy organization Sarcoidosis of Long Island as well as a patient with Sarcoidosis.  Frank has been a patient advocate for thirteen years at the state and federal level, and served on the NYS Rare Disease Work Group. Frank is committed to fighting for people with rare diseases and their caregivers who can't fight for themselves.  

I inherited a rare disease called Retinitis Pigmentosa. It took me 16 years to get a diagnosis, which was a devastating & life altering journey. By age 50, I was left with light/dark perception with hues of colors dependent on the seasons and angles of light hitting my retina. I became a patient advocate and joined NYSRDC to support and encourage legislators to make policies ensuring that health plans will cover early diagnosis and treatment that improves the quality of life for millions of Americans. We live in the richest country in the world with the means to do this. I believe technology, robotics and personalized medicines is going to assist in the healing of many diseases and impairments for the world! Let’s start at home and show the world how well we take care of people in the United States of America!